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Items: 67

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:236849952
GRCh38:
Chr1:236686652
ACTN2not specifiedGMAF:0.01160(T)Benign
(Jan 16, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr1:236849999
GRCh38:
Chr1:236686699
ACTN2Dilated cardiomyopathy 1AA, not specified, Dilated cardiomyopathy
GO-ESP:0.00054(G)
GMAF:0.00060(G)
Conflicting interpretations of pathogenicity
(Mar 15, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr1:236850113
GRCh38:
Chr1:236686813
ACTN2not specifiedGMAF:0.00020(T)Benign
(Oct 2, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr1:236881174
GRCh38:
Chr1:236717874
ACTN2not specifiedUncertain significance
(Nov 26, 2013)
criteria provided, single submitter
5.
GRCh37:
Chr1:236882230
GRCh38:
Chr1:236718930
ACTN2Primary familial hypertrophic cardiomyopathy, not specifiedUncertain significance
(May 4, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:236882303
GRCh38:
Chr1:236719003
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GMAF:0.00740(T)Benign
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:236882305
GRCh38:
Chr1:236719005
ACTN2not specifiedUncertain significance
(Jan 4, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:236883421
GRCh38:
Chr1:236720121
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GMAF:0.07930(C)Benign
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:236883484
GRCh38:
Chr1:236720184
ACTN2not specifiedGMAF:0.00140(A)Benign
(Mar 26, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr1:236889280
GRCh38:
Chr1:236725980
ACTN2not specifiedUncertain significance
(Oct 23, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:236889301
GRCh38:
Chr1:236726001
ACTN2not specifiedUncertain significance
(May 5, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr1:236889330
GRCh38:
Chr1:236726030
ACTN2not specifiedGO-ESP:0.00561(T)
GMAF:0.00440(T)
Benign
(Feb 12, 2014)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:236894537
GRCh38:
Chr1:236731237
ACTN2not specifiedUncertain significance
(Sep 4, 2012)
criteria provided, single submitter
14.
GRCh37:
Chr1:236898937
GRCh38:
Chr1:236735637
ACTN2not specifiedUncertain significance
(Aug 6, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr1:236898940
GRCh38:
Chr1:236735640
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
Uncertain significance
(Nov 19, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:236898942
GRCh38:
Chr1:236735642
ACTN2not specifiedGO-ESP:0.00054(C)
GMAF:0.03360(C)
Benign
(Apr 29, 2013)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:236900420
GRCh38:
Chr1:236737120
ACTN2not specifiedUncertain significance
(Sep 28, 2012)
criteria provided, single submitter
18.
GRCh37:
Chr1:236900432
GRCh38:
Chr1:236737132
ACTN2not specifiedUncertain significance
(Sep 4, 2012)
criteria provided, single submitter
19.
GRCh37:
Chr1:236900508
GRCh38:
Chr1:236737208
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00507(A)
GMAF:0.00600(A)
Benign
(Jan 12, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:236902594
GRCh38:
Chr1:236739294
ACTN2not specifiedGO-ESP:0.77749(G)
GMAF:0.23240(C)
Benign
(Jan 31, 2013)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:236902618
GRCh38:
Chr1:236739318
ACTN2not specifiedGO-ESP:0.00062(A)
GMAF:0.00020(A)
Uncertain significance
(Jan 11, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:236902651
GRCh38:
Chr1:236739351
ACTN2not specifiedUncertain significance
(Apr 30, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr1:236906323
GRCh38:
Chr1:236743023
ACTN2not specified, not providedGO-ESP:0.00015(T)Uncertain significance
(Aug 3, 2015)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:236907957
GRCh38:
Chr1:236744657
ACTN2not specifiedUncertain significance
(Sep 17, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr1:236907966
GRCh38:
Chr1:236744666
ACTN2not specifiedGO-ESP:0.04967(A)
GMAF:0.03470(A)
Benign
(Sep 25, 2012)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:236907968
GRCh38:
Chr1:236744668
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GMAF:0.00160(T)Benign/Likely benign
(Mar 21, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:236907977
GRCh38:
Chr1:236744677
ACTN2not specifiedGMAF:0.00020(C)Uncertain significance
(Jan 29, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr1:236908002
GRCh38:
Chr1:236744702
ACTN2not specifiedBenign
(May 13, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr1:236908011
GRCh38:
Chr1:236744711
ACTN2not specifiedGO-ESP:0.00315(T)
GMAF:0.00040(T)
Benign
(Oct 3, 2013)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:236908018
GRCh38:
Chr1:236744718
ACTN2not specifiedUncertain significance
(Jan 22, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr1:236908041
GRCh38:
Chr1:236744741
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00538(T)
GMAF:0.00680(T)
Benign
(Mar 5, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:236908053
GRCh38:
Chr1:236744753
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00131(T)
GMAF:0.00100(T)
Benign/Likely benign
(Aug 6, 2015)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:236910983
GRCh38:
Chr1:236747683
ACTN2not specifiedGO-ESP:0.00023(A)
GMAF:0.02580(A)
Benign
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:236910986
GRCh38:
Chr1:236747686
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified,
not provided
GMAF:0.00060(A)Conflicting interpretations of pathogenicity
(Mar 27, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:236911012
GRCh38:
Chr1:236747712
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00038(A)
GMAF:0.00080(C)
Benign/Likely benign
(Jan 19, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:236911090
GRCh38:
Chr1:236747790
ACTN2not specifiedGO-ESP:0.00146(T)
GMAF:0.00100(T)
Benign
(Dec 31, 2013)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:236912424
GRCh38:
Chr1:236749124
ACTN2CardiomyopathyUncertain significance
(Feb 18, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr1:236914754
GRCh38:
Chr1:236751454
ACTN2not specifiedGMAF:0.00120(C)Benign
(Jun 16, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr1:236914817
GRCh38:
Chr1:236751517
ACTN2not specifiedBenign
(Jun 11, 2013)
criteria provided, single submitter
40.
GRCh37:
Chr1:236914836
GRCh38:
Chr1:236751536
ACTN2not specifiedUncertain significance
(May 15, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr1:236914861
GRCh38:
Chr1:236751561
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GMAF:0.00020(G)Conflicting interpretations of pathogenicity
(Mar 3, 2016)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr1:236914912
GRCh38:
Chr1:236751612
ACTN2not specifiedUncertain significance
(Jul 11, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr1:236914923
GRCh38:
Chr1:236751623
ACTN2not specified, not providedGO-ESP:0.02114(G)
GMAF:0.01960(G)
Benign
(Jan 11, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:236917271
GRCh38:
Chr1:236753971
ACTN2not specifiedGO-ESP:0.00085(A)
GMAF:0.00060(A)
Conflicting interpretations of pathogenicity
(Dec 31, 2015)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr1:236917326
GRCh38:
Chr1:236754026
ACTN2not providedLikely pathogenic
(Dec 2, 2013)
criteria provided, single submitter
46.
GRCh37:
Chr1:236917337
GRCh38:
Chr1:236754037
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00038(A)Uncertain significance
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:236917339
GRCh38:
Chr1:236754039
ACTN2not specifiedGO-ESP:0.00354(A)
GMAF:0.00180(A)
Benign
(Mar 14, 2014)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:236918307
GRCh38:
Chr1:236755007
ACTN2not specifiedBenign
(Apr 24, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr1:236918329
GRCh38:
Chr1:236755029
ACTN2not specifiedUncertain significance
(Nov 12, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr1:236918347
GRCh38:
Chr1:236755047
ACTN2not specifiedUncertain significance
(Jul 9, 2014)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:236918420
GRCh38:
Chr1:236755120
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00123(T)
GMAF:0.00120(T)
Benign
(Jan 2, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:236918483
GRCh38:
Chr1:236755183
ACTN2Cardiomyopathy, not specifiedGO-ESP:0.03268(A)
GMAF:0.03650(A)
Benign
(Dec 6, 2012)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:236918491
GRCh38:
Chr1:236755191
ACTN2Familial hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy,
Cardiomyopathy, not specified
GMAF:0.00020(G)Uncertain significance
(Feb 4, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:236920792
GRCh38:
Chr1:236757492
ACTN2not specifiedUncertain significance
(Jun 12, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr1:236920792
GRCh38:
Chr1:236757492
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jan 23, 2016)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:236920825
GRCh38:
Chr1:236757525
ACTN2not specifiedUncertain significance
(Dec 3, 2015)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:236924298
GRCh38:
Chr1:236760998
ACTN2not specifiedGMAF:0.02760(C)Benign
(Jan 7, 2013)
criteria provided, single submitter
58.
GRCh37:
Chr1:236924324
GRCh38:
Chr1:236761024
ACTN2not specifiedUncertain significance
(May 24, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr1:236924467
GRCh38:
Chr1:236761167
ACTN2not specifiedUncertain significance
(Aug 13, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr1:236925760
GRCh38:
Chr1:236762460
ACTN2not providedPathogenic
(Sep 4, 2012)
criteria provided, single submitter
61.
GRCh37:
Chr1:236925801
GRCh38:
Chr1:236762501
ACTN2not specifiedUncertain significance
(May 21, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr1:236925812
GRCh38:
Chr1:236762512
ACTN2not specified, not providedConflicting interpretations of pathogenicity
(Feb 27, 2013)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:236925844
GRCh38:
Chr1:236762544
ACTN2not specifiedGO-ESP:0.15570(A)
GMAF:0.19610(A)
Benign
(Feb 6, 2013)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:236925846
GRCh38:
Chr1:236762546
ACTN2not specifiedUncertain significance
(Oct 27, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr1:236925878
GRCh38:
Chr1:236762578
ACTN2not specifiedLikely benign
(May 28, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr1:236925893
GRCh38:
Chr1:236762593
ACTN2not specified, not providedUncertain significance
(May 24, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:236925912
GRCh38:
Chr1:236762612
ACTN2not providedLikely pathogenic
(Mar 26, 2014)
criteria provided, single submitter
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